1. Ischiospinal dysostosis with cystic kidney disease: report of two cases
- Author
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Gen Nishimura, Tomonobu Hasegawa, Ok Hwa Kim, and Seiji Sato
- Subjects
Male ,Pathology ,medicine.medical_specialty ,urologic and male genital diseases ,Solitary Renal Cyst ,Pathology and Forensic Medicine ,Cystic kidney disease ,Normal renal function ,Ischium ,Polycystic kidney disease ,Humans ,Medicine ,Nephroblastomatosis ,Genetics (clinical) ,business.industry ,Infant, Newborn ,Dysostoses ,Infant ,Dysostosis ,General Medicine ,Kidney Diseases, Cystic ,medicine.disease ,Spine ,Hypoplasia ,Radiography ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Anatomy ,business ,Multiple renal cysts - Abstract
Ischiospinal dysostosis (ISD) is a recently described entity characterized by ischial hypoplasia and spinal segmental anomalies. Nephroblastomatosis that may manifest radiologically as 'polycystic kidney disease' has been regarded as a syndromic constituent of ISD. We report two children with ISD associated with 'renal cystic disease'. One child had multiple renal cysts resembling radiologically adult polycystic kidney disease, leading to renal dysfunction, whereas the other a solitary renal cyst with normal renal function. Renal malformations in ISD may be variable, ranging from diffuse nephroblastomatosis to a solitary renal cyst.
- Published
- 2003
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